Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Fabio Tognon"'
Autor:
Andrea Guala, Marianna Spunton, Fabio Tognon, Marilena Pedrinazzi, Luisa Medolago, Paola Cerutti Mainardi, Silvia Spairani, Michela Malacarne, Enrico Finale, Mario Comelli, Cesare Danesino
Publikováno v:
The Scientific World Journal, Vol 2016 (2016)
The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it w
Externí odkaz:
https://doaj.org/article/7c1b9c7eb3024b5d85a9d1c7b9bdbbed
Autor:
Angelina Cistaro, Giovanni Albani, Fabio Tognon, Alexandra Liava, Alberto Vogrig, Irene Giovanna Schiera, Natale Quartuccio, Piercarlo Fania, Cesare Danesino, Andrea Guala
We describe the first report on the genotype-phenotype patterns and [18F] fluoro-deoxygluycose (18F-FDG) Positron Emission Tomography (PET) findings in two disease-discordant monozygotic twins with...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e83e91a146d2445a18bf1898a2722d
https://hdl.handle.net/11390/1236116
https://hdl.handle.net/11390/1236116
Autor:
Giovanni Albani, Marianna Spunton, Félix Casado, Maria Elena Liverani, Julián Nevado, Fabio Tognon, Isabel Larrea, Marta del Valle, Luisa Medolago, Giovanni Porta, Cesare Danesino, Andrea Guala, Josefina Porras
Publikováno v:
American Journal of Medical Genetics Part A.
Skin picking (SP) disorder is characterized by recurrent SP resulting in skin lesions. Several studies estimated its prevalence as approximately 2-4 % of the general population. It is also present in a high percentage of patients with intellectual an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91a4f79c6eb9defaa80f0deb4fcdec4e
https://doi.org/10.1002/ajmg.a.61259
https://doi.org/10.1002/ajmg.a.61259
Autor:
Marilena Pedrinazzi, Cesare Danesino, Andrea Guala, Paola Cerutti Mainardi, S. Spairani, Michela Malacarne, Luisa Medolago, Mario Comelli, Marianna Spunton, Fabio Tognon, Enrico Finale
Publikováno v:
The Scientific World Journal, Vol 2016 (2016)
The Scientific World Journal
The Scientific World Journal
The Cri du Chat syndrome (CdC) is a rare genetic disorder caused by variable size deletions of the short arm of chromosome 5 (5p−). It is well known that home-reared patients show better performances as compared to institutionalised cases, and it w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0954f2570c1623bfa645fc089665bb0e
https://doaj.org/article/7c1b9c7eb3024b5d85a9d1c7b9bdbbed
https://doaj.org/article/7c1b9c7eb3024b5d85a9d1c7b9bdbbed